Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297
Disease group: Hematologic diseases| ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021) |
|---|---|---|---|---|---|
| 60 | Aplastic anemia [Hem] 💬 "Idiopathic aplastic anemia", "Secondary aplastic anemia", "Special-type aplastic anemia", "Congenital aplastic anemia" | 245 245 trials 53 / 143 / 30 / 21 💬 | 318 318 drugs [ 86 86 drugs ] | 44 44 genes 166 pathways | 8348 (1) 10,287 patients (2) 8,348 patients Age distribution  💬 |
| 61 | Autoimmune hemolytic anemia [Hem] 💬 "AIHA", "Warm AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Mixed AIHA", "MAIHA", "Evans syndrome" | 146 146 trials 29 / 69 / 68 / 6 💬 | 131 131 drugs [ 59 59 drugs ] | 28 28 genes 158 pathways | 1178 (1) About 2,600 patients (2) 1,178 patients Age distribution  💬 |
| 62 | Paroxysmal nocturnal hemoglobinuria [Hem] 💬 "PNH", "Classic paroxysmal nocturnal hemoglobinuria", "Classic PNH", "Paroxysmal nocturnal hemoglobinuria, bone marrow failure type", "Paroxysmal nocturnal hemoglobinuria, mixed type" | 292 292 trials 107 / 106 / 174 / 23 💬 | 151 151 drugs [ 49 49 drugs ] | 22 22 genes 108 pathways | 959 (1) About 400 patients (2) 959 patients Age distribution  💬 |
| 63 | Idiopathic thrombocytopenic purpura [Hem] 💬 "Primary immune thrombocytopenia" | 391 391 trials 148 / 85 / 191 / 61 💬 | 235 235 drugs [ 50 50 drugs ] | 49 49 genes 139 pathways | 16972 (1) 24,956 patients (2) 16,972 patients Age distribution  💬 |
| 64 | Thrombotic thrombocytopenic purpura [Hem] 💬 "TTP", "Upshaw-Schulman syndrome", "USS", "Acquired TTP", "Congenital TTP" | 92 92 trials 29 / 31 / 50 / 8 💬 | 85 85 drugs [ 21 21 drugs ] | 18 18 genes 76 pathways | 361 (1) Estimated occurrence: About 500 patients per year (2) 361 patients Age distribution  💬 |
| 65 | Primary immunodeficiency [Hem] 💬 "X-linked severe combined immunodeficiency", "X-SCID", "Reticular dysgenesis", "Adenosine deaminase deficiency", "Omenn syndrome", "Purine nucleoside phosphorylase deficiency", "CD8 deficiency", "ZAP-70 deficiency", "MHC class I deficiency", "MHC class II deficiency", "Combined immunodeficiency", "Wiskott-Aldrich syndrome", "WAS", "Ataxia telangiectasia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Familial hemophagocytic syndrome", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Primary phagocytic dysfunction", "Severe congenital neutropenia", "Cyclic neutropenia", "Hermanskyi-Pudlak syndrome type 2", "Hermanskyi-Pudlak syndrome 2", "Griscelli syndrome type 2", "Griscelli syndrome 2", "p14 deficiency", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "C1r deficiency", "C1s deficiency", "C2 deficiency", "C3 deficiency", "C4 deficiency", "C5 deficiency", "C6 deficiency", "C7 deficiency", "C8 deficiency", "C9 deficiency", "Factor D deficiency", "Properdin deficiency", "Factor I deficiency", "Factor H deficiency", "MASP1 deficiency", "3MC syndrome", "Mannose-binding protein-associated serine protease 2 deficiency", "MASP2 deficiency", "Immunodeficiency associated with FCN3 mutation", "FCN3", "Hereditary angioedema type 1", "Hereditary angioedema type I", "C1 inhibitor deficiency type 1", "C1 inhibitor deficiency type I", "Hereditary angioedema type 2", "Hereditary angioedema type II", "C1 inhibitor deficiency type 2", "C1 inhibitor deficiency type II", "Hereditary angioedema type 3", "Hereditary angioedema type III", "C1 inhibitor deficiency type 3", "C1 inhibitor deficiency type III" | 500 500 trials 211 / 205 / 173 / 59 💬 | 614 614 drugs [ 119 119 drugs ] | 92 92 genes 217 pathways | 1964 (1) 1,383 patients (2) 1,964 patients Age distribution  💬 |
| 282 | Congenital dyserythropoietic anemia [Hem] 💬 "CDA" | 1 1 trial 0 / 0 / 0 / 1 💬 | 1 1 drug [ 1 1 drug ] | 2 2 genes 4 pathways | 11 (1) Less than 100 patients (2) 11 patients Age distribution  💬 |
| 283 | Acquired pure red cell aplasia [Hem] 💬 "Pure red cell aplasia" | 19 19 trials 7 / 13 / 2 / 5 💬 | 36 36 drugs [ 23 23 drugs ] | 20 20 genes 102 pathways | 829 (1) Incidence per year: 0.3 patients per one million population (2) 829 patients Age distribution  💬 |
| 284 | Diamond-Blackfan anemia [Hem] 💬 | 36 36 trials 18 / 25 / 4 / 2 💬 | 95 95 drugs [ 34 34 drugs ] | 23 23 genes 126 pathways | 23 (1) About 200 patients (2) 23 patients Age distribution  💬 |
| 285 | Fanconi anemia [Hem] 💬 | 62 62 trials 27 / 37 / 3 / 1 💬 | 93 93 drugs [ 30 30 drugs ] | 30 30 genes 144 pathways | 13 (1) About 200 patients (2) 13 patients Age distribution  💬 |
| 286 | Hereditary sideroblastic anemia [Hem] 💬 "Congenital sideroblastic anemia", "Sideroblastic anemia" | 7 7 trials 5 / 2 / 1 / 1 💬 | 20 20 drugs [ 10 10 drugs ] | 8 8 genes 43 pathways | 13 (1) Less than 100 patients (2) 13 patients Age distribution  💬 |
| 327 | Idiopathic thrombosis [Hem] 💬 | 0 - | 0 - | 0 - | 205 (1) Based on the national survey of the research group, the total number of patients in Japan is estimated as about 2,000 patients. Occurrence per year in naonates and infants: Less than 100 patients, in adult: About 500 patients. (2) 205 patients Age distribution  💬 |
| 331 | Idiopathic multicentric castleman disease [Hem] 💬 "iMCD", "Castleman disease" | 33 33 trials 15 / 24 / 2 / 4 💬 | 41 41 drugs [ 21 21 drugs ] | 22 22 genes 123 pathways | 1526 (1) About 1,500 patients (2) 1,526 patients Age distribution  💬 |